Variant report

Variant	rs16831523
Chromosome Location	chr3:120316203-120316204
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:120316202-120316216	MCF-7	breast:	n/a	n/a
2	POLR2A	chr3:120316171-120316745	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:120314752-120316829	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:120314603-120316861	K562	blood:	n/a	n/a
5	POLR2A	chr3:120314614-120317060	GM12891	blood:	n/a	n/a
6	POLR2A	chr3:120314571-120316834	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr3:120315928-120316336	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:120315040..120318401-chr3:120459431..120463263,5	MCF-7	breast:
2	chr3:120313507..120317684-chr3:120458763..120463692,6	MCF-7	breast:
3	chr3:120066931..120069030-chr3:120314504..120317461,2	MCF-7	breast:

Variant related genes	Relation type
NDUFB4	TF binding region
ENSG00000153767	Chromatin interaction
ENSG00000240661	Chromatin interaction
ENSG00000144840	Chromatin interaction
ENSG00000163428	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12635956	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1465837	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1583654	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17140281	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17140284	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34438738	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34924588	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35085316	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72625410	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72625411	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72625413	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72625414	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72625415	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72625416	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7626272	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv508238	chr3:120248574-120329424	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	esv3373301	chr3:120273762-120421260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv877377	chr3:120287683-120426750	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3464294	chr3:120303062-120420810	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv3464295	chr3:120303062-120420810	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
12	esv3427031	chr3:120314687-120317235	Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120314400-120317000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr3:120314600-120316400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr3:120314600-120316400	Active TSS	Primary T cells fromperipheralblood	blood
4	chr3:120314600-120316400	Active TSS	Right Ventricle	heart
5	chr3:120314600-120316400	Active TSS	NHDF-Ad	bronchial
6	chr3:120314600-120316800	Active TSS	Psoas Muscle	Psoas
7	chr3:120314600-120316800	Active TSS	Right Atrium	heart
8	chr3:120314800-120316400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr3:120314800-120316400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr3:120314800-120316400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:120314800-120316400	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr3:120314800-120316600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:120314800-120316800	Active TSS	Ovary	ovary
14	chr3:120315600-120316400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:120315600-120316800	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr3:120315600-120316800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr3:120315600-120317000	Weak transcription	Spleen	Spleen
18	chr3:120315800-120316400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:120315800-120316600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr3:120315800-120316600	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:120315800-120316800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:120315800-120317000	Weak transcription	Gastric	stomach
23	chr3:120315800-120320200	Weak transcription	Pancreas	Pancrea
24	chr3:120315800-120323600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:120315800-120337200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:120316000-120316400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:120316000-120316400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr3:120316000-120316400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:120316000-120316400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr3:120316000-120316400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr3:120316000-120316400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:120316000-120316400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr3:120316000-120316400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:120316000-120316400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:120316000-120316400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr3:120316000-120316400	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr3:120316000-120316400	Flanking Active TSS	Fetal Kidney	kidney
38	chr3:120316000-120316400	Flanking Active TSS	Fetal Stomach	stomach
39	chr3:120316000-120316400	Flanking Active TSS	Fetal Thymus	thymus
40	chr3:120316000-120316400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr3:120316000-120316400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr3:120316000-120316400	Flanking Active TSS	Thymus	Thymus
43	chr3:120316000-120316400	Flanking Active TSS	HSMM	muscle
44	chr3:120316000-120316400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr3:120316000-120316400	Flanking Active TSS	NH-A	brain
46	chr3:120316000-120316600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:120316000-120316600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr3:120316000-120316600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr3:120316000-120316600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:120316000-120316600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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